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R

Robert B. Hufnagel

center for integrated health
H指数:33
被引数:3,460

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Corrigendum to “Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.” Am J Ophthalmol. 2020; 219:87-100

勘误：“RUSH2A研究中的基线视场发现：相关因素与疾病严重程度其他指标的关联。” 美国眼科杂志。2020; 219:87-100

American Journal of Ophthalmology
IF4.2
2025-08-050
PRE
Jacque L. Duncan; Wendi Liang; Maureen G. Maguire; Isabelle Audo; Allison R. Ayala; David G. Birch; Joseph Carroll; Janet K. Cheetham; Simona Degli Esposti; Todd A. Durham; Laura Erker; Sina Farsiu; Frederick L. Ferris; Elise Heon; Robert B. Hufnagel; Alessandro Iannaccone; Glenn J. Jaffe; Christine N. Kay; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel
Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

USH2A相关视网膜变性的视野损失进展率特征：4年随访研究（RUSH2A研究）

AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2025-05-220
PRE
Duncan, JL; Maguire, MG; McDaniel, LS; Doucet, NR; Audo, I; Ayala, AR; Cheetham, JK; Cheng, PY; Durham, TA; Huckfeldt, RM; Hufnagel, RB; Jayasundera, KT; Khan, N; Malbin, B; Maldonado, RS; Michaelides, M; Pennesi, ME; Weng, CY; Zmejkoski, A; Aravind, S; Ishikawa, H; Birch, DG
BASELINE VISUAL FIELD FINDINGS IN THE RUSH2A STUDY: ASSOCIATED FACTORS AND CORRELATION WITH OTHER MEASURES OF DISEASE SEVERITY (vol 219, pg 87, 2020)

RUSH2A研究中的基线视场发现：相关因素及与其他疾病严重程度指标的相关性（卷219，页87，2020）

AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2025-05-010
PRE
Duncan, JL; Liang, WD; Maguire, MG; Audo, I; Ayala, AR; Birch, DG; Carroll, J; Cheetham, JK; Degli Esposti, S; Durham, TA; Erker, L; Farsiu, S; Ferris, FL III; Heon, E; Hufnagel, RB; Iannacconé, A; Jaffe, GJ; Kay, CN; Michaelides, M; Pennesi, ME; Sahel, JA
Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因的变异导致一系列视网膜和骨骼表型。

NPJ GENOMIC MEDICINE
IF4.8
2025-04-170
OA
Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E.
A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression

crim1功能缺失的斑马鱼模型具有体积较小且形状异常的晶状体，以及clíc4和fgf1b表达失调。

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
IF4.3
2025-03-060
OA
Le, Tien; Htun, Stephanie; Pandey, Manoj Kumar; Sun, Yihui; Magnusen, Albert Frank; Ullah, Ehsan; Lauzon, Julie; Beres, Shannon; Lee, Chung; Guan, Bin; Hufnagel, Robert B.; Brooks, Brian P.; Baranzini, Sergio E.
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2025-02-062
OAAI
Branham, Kari; Samarakoon, Lassana; Audo, Isabelle; Ayala, Allison R.; Cheetham, Janet K.; Daiger, Stephen P.; Dhooge, Patty; Duncan, Jacque L.; Durham, Todd A.; Fahim, Abigail T.; Huckfeldt, Rachel M.; Hufnagel, Robert B.; Kohl, Susanne; Maldonado, Ramiro S.; Melia, Michele; Michaelides, Michel; Pennesi, Mark E.; Sahel, Jose-Alain; Sallum, Juliana M. Ferraz; Singh, Mandeep S.; Sharon, Dror; Stepien, Kimberly; Jones, Kaylie; Weng, Christina Y.
Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells
NUCLEIC ACID THERAPEUTICS
IF4.7
2024-10-011
PRE
Venkatesh, Aditya; McKenty, Taylor; Ali, Syed; Sonntag, Donna; Ravipaty, Shobha; Cui, Yanyan; Slate, Deirdre; Lin, Qian; Christiansen, Anne; Jacobson, Sarah; Kach, Jacob; Lim, Kian Huat; Srinivasan, Vaishnavi; Zinshteyn, Boris; Aznarez, Isabel; Huryn, Laryssa A.; Li, Zhiyu; Hufnagel, Robert B.; Liau, Gene; Anderson, Karen; Hoger, Jeff
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
BRAIN
IF11.7
2024-05-130
OA
Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF KB-Mediated Autoinflammatory Disease with Retinal Dystrophy

ROSAH的眼科表现 (视网膜营养不良，视神经水肿，脾肿大，无汗和头痛) 综合征，一种遗传性NF KB介导的自身炎症性疾病，伴有视网膜营养不良

OPHTHALMOLOGY
IF9.5
2023-04-0110
OA
Huryn, Laryssa A.; Kozycki, Christina Torres; Serpen, Jasmine Y.; Zein, Wadih M.; Ullah, Ehsan; Iannaccone, Alessandro; Williams, Lloyd B.; Sobrin, Lucia; Brooks, Brian P.; Sen, H. Nida; Hufnagel, Robert B.; Kastner, Daniel L.; Kodati, Shilpa

研究方向

暂未获取到该数据
B
Brian P. Brooks
H 指数:31论文数:180被引数:2,665
W
Wadih M. Zein
H 指数:33论文数:204被引数:3,442
L
Laryssa A. Huryn
H 指数:23论文数:135被引数:1,411
B
Bin Guan
H 指数:34论文数:170被引数:1.0万
E
Ehsan Ullah
H 指数:23论文数:175被引数:1,995
M
Michel Michaelides
H 指数:78论文数:822被引数:2.4万
J
Jacque L. Duncan
H 指数:54论文数:297被引数:9,476
C
Catherine A. Cukras
H 指数:40论文数:228被引数:4,722
Z
Zubair M. Ahmed
H 指数:54论文数:203被引数:1.2万
M
Mark E. Pennesi
H 指数:46论文数:378被引数:7,750